Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N2D
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RHO

NM_000539.3:p.N2D

Associated Papers

Minigene Splice Assays Allow Pathogenicity Reclassification of RPE65 Variants of Uncertain Significance.

Panneman DM et al.

Genes, 2025

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19
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